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Background:
Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data.
Methods:
The source of data was a sample of the Institute for Applied Health Research Berlin (InGef) Research Database, comprising data of approximately four million insured persons from approximately 70 German statutory health insurances. The study was conducted in a retrospective cross-sectional design using 2015 and 2016 as a two-year observation period. At least two outpatient or inpatient ICD-10 codes for HD (ICD-10: G10) during the study period were required for case identification. Patients were considered incident if no HD diagnoses in the 4 years prior to the year of case identification were documented. Information on outpatient drug dispensations, medical aids and remedies were considered to describe the current treatment situation of HD patients.
Results:
A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.4–2.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.3–10.4) was observed. The prevalence of HD increased with advancing age, peaking at 60–69 years (16.8 per 100,000 persons; 95%-CI: 13.4–21.0) and decreasing afterwards.
The most frequently observed comorbidities and disease-associated symptoms in HD patients were depression (42.9%), dementia (37.7%), urinary incontinence (32.5%), extrapyramidal and movement disorders (30.5%), dysphagia (28.6%) and disorders of the lipoprotein metabolism (28.2%).
The most common medications in HD patients were antipsychotics (66.9%), followed by antidepressants (45.1%). Anticonvulsants (16.6%), opioids (14.6%) and hypnotics (9.7%) were observed less frequently.
Physical therapy was the most often used medical aid in HD patients (46.4%). Nursing services and speech therapy were used by 27.9 and 22.7% of HD patients, respectively, whereas use of psychotherapy was rare (3.2%).
Conclusions:
Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research.
Background
Chronic obstructive pulmonary disease (COPD) causes significant morbidity and mortality worldwide. Estimation of incidence, prevalence and disease burden through routine insurance data is challenging because of under-diagnosis and under-treatment, particularly for early stage disease in health care systems where outpatient International Classification of Diseases (ICD) diagnoses are not collected. This poses the question of which criteria are commonly applied to identify COPD patients in claims datasets in the absence of ICD diagnoses, and which information can be used as a substitute. The aim of this systematic review is to summarize previously reported methodological approaches for the identification of COPD patients through routine data and to compile potential criteria for the identification of COPD patients if ICD codes are not available.
Methods
A systematic literature review was performed in Medline via PubMed and Google Scholar from January 2000 through October 2018, followed by a manual review of the included studies by at least two independent raters. Study characteristics and all identifying criteria used in the studies were systematically extracted from the publications, categorized, and compiled in evidence tables.
Results
In total, the systematic search yielded 151 publications. After title and abstract screening, 38 publications were included into the systematic assessment. In these studies, the most frequently used (22/38) criteria set to identify COPD patients included ICD codes, hospitalization, and ambulatory visits. Only four out of 38 studies used methods other than ICD coding. In a significant proportion of studies, the age range of the target population (33/38) and hospitalization (30/38) were provided. Ambulatory data were included in 24, physician claims in 22, and pharmaceutical data in 18 studies. Only five studies used spirometry, two used surgery and one used oxygen therapy.
Conclusions
A variety of different criteria is used for the identification of COPD from routine data. The most promising criteria set in data environments where ambulatory diagnosis codes are lacking is the consideration of additional illness-related information with special attention to pharmacotherapy data. Further health services research should focus on the application of more systematic internal and/or external validation approaches.
Eine durch die Digitalisierung veränderte und auf Open Science ausgerichtete Wissenschaftspraxis benötigt angepasste Infrastrukturen und Services. Daraus ergeben sich verschiedene neue oder veränderte Aktionsfelder für wissenschaftliche Bibliotheken und Infrastruktureinrichtungen. Zu nennen sind zum Beispiel die nicht-textuellen Materialien wie Forschungsdaten, AV-Medien oder Software und die Umsetzung der FAIR-Prinzipien. Hinzu kommen neue Aufgaben im Bereich der Forschungsinformationen, zum Beispiel in der Unterstützung institutioneller Forschungsinformationssysteme, die Gestaltung von Open Access, die Unterstützung kollaborativen wissenschaftlichen Arbeitens sowie die Schaffung von offenen Infrastrukturen. In diesem Artikel werden diese Felder kurz vorgestellt und sich daraus abzeichnende Anforderungen an das bibliothekarische Berufsbild skizziert.
Nitric oxide adsorption on a Au(100) single crystal has been investigated to identify the type of adsorption, the adsorption site, and the orientation and alignment of the adsorbed NO relative to the surface. This was done using a combination of 3D-surface velocity map imaging, near-ambient pressure X-ray photoelectron spectroscopy, and density functional theory. NO was observed to be molecularly adsorbed on gold at ~200 K. Very narrow angular distributions and cold rotational distributions of photodesorbed NO indicate that NO adsorbs on high-symmetry sites on the Au crystal, with the N–O bond axis close to the surface normal. Our density functional theory calculations show that NO preferentially adsorbs on the symmetric bridge (2f) site, which ensures efficient overlap of the NO π* orbital with the orbitals on the two neighbouring Au atoms, and with the N–O bond axis aligned along the surface normal, in agreement with our conclusions from the rotational state distributions. The combination of XPS, which reveals the orientation of NO on gold, with 3D-surface velocity map imaging and density functional theory thus allowed us to determine the adsorption site, orientation and alignment of nitric oxide adsorbed on Au(100).
Die Digitalisierung der Geisteswissenschaften eröffnet Wissenschaftlerinnen und Wissenschaftlern unter anderem neue Möglichkeiten des kollaborativen Arbeitens, des offenen Publizierens oder der direkten und öffentlichkeitswirksamen Wissenskommunikation. Auch die Literaturrecherche als ein Grundpfeiler wissenschaftlichen Arbeitens erfährt schon seit Jahren einen stetigen Wandel. Bibliotheken befinden sich als Anbieter von Literatur, Medien und Rechercheinstrumenten in einem Spannungsfeld: Die Kerntätigkeitsbereiche der Erwerbung sowie der Vermittlung von Informationskompetenz unterliegen auch aufgrund der zunehmenden Digitalisierung veränderten Rahmenbedingungen, die meistens außerhalb der Reichweite der lokalen Bibliothek liegen. Diese Bedingungen beeinflussen sowohl die Tätigkeiten des Bibliothekspersonals als auch die Informationsversorgung der Bibliothekskundinnen und -kunden stark.
In diesem Artikel soll mit Bezug auf eine Universitätsbibliothek mittlerer Größe und mit Blick auf eine ihrer wichtigsten Zielgruppen, nämlich die der Studierenden, dargestellt werden, wie sich im Zuge der zunehmenden Digitalisierung Fragen der Erwerbungspolitik und unterschiedliche Wege der Literaturrecherche auf das wissenschaftliche Arbeiten auswirken. Ein besonderes
Augenmerk gilt dabei dem Bestandsaufbau im Fachreferat Germanistik im Gefüge der an der Universität zu versorgenden Fächer. An der Schnittstelle zu Forschung, Lehre und Studium sind es die Fachreferentinnen und Fachreferenten der Bibliothek, die sowohl die Rahmenbedingungen als auch die verschiedenen Möglichkeiten der Literaturrecherche proaktiv vermitteln müssen.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
(2019)
The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum of primary CMP in a large cohort of patients ≤18 years referred to a tertiary center. Eighty unrelated index patients with pediatric primary CMP underwent genetic testing with a panel-based next-generation sequencing approach of 89 genes. At least one pathogenic or probably pathogenic variant was identified in 30/80 (38%) index patients. In all CMP subgroups, patients carried most frequently variants of interest in sarcomere genes suggesting them as a major contributor in pediatric primary CMP. In MYH7, MYBPC3, and TNNI3, we identified 18 pathogenic/probably pathogenic variants (MYH7 n = 7, MYBPC3 n = 6, TNNI3 n = 5, including one homozygous (TNNI3 c.24+2T>A) truncating variant. Protein and transcript level analysis on heart biopsies from individuals with homozygous mutation of TNNI3 revealed that the TNNI3 protein is absent and associated with upregulation of the fetal isoform TNNI1. The present study further supports the clinical importance of sarcomeric mutation-not only in adult-but also in pediatric primary CMP. TNNI3 is the third most important disease gene in this cohort and complete loss of TNNI3 leads to severe pediatric CMP.
Background:
Promoting patient and occupational safety are two key challenges for hospitals. When aiming to improve these two outcomes synergistically, psychosocial working conditions, leadership by hospital management and supervisors, and perceptions of patient and occupational safety climate have to be considered. Recent studies have shown that these key topics are interrelated and form a critical foundation for promoting patient and occupational safety in hospitals. So far, these topics have mainly been studied independently from each other. The present study investigated hospital staffs’ perceptions of four different topics: (1) psychosocial working conditions, (2) leadership, (3) patient safety climate, and (4) occupational safety climate. We present results from a survey in two German university hospitals aiming to detect differences between nurses and physicians.
Methods:
We performed a cross-sectional study using a standardized paper-based questionnaire. The survey was conducted with nurses and physicians to assess the four topics. The instruments mainly consisted of scales of the German version of the COPSOQ (Copenhagen Psychosocial Questionnaire), one scale of the Copenhagen Burnout Inventory (CBI), scales to assess leadership and transformational leadership, scales to assess patient safety climate using the Hospital Survey on Patient Safety Culture (HSPSC), and analogous items to assess occupational safety climate.
Results:
A total of 995 completed questionnaires out of 2512 distributed questionnaires were returned anonymously. The overall response rate was 39.6%. The sample consisted of 381 physicians and 567 nurses. We found various differences with regard to the four topics. In most of the COPSOQ and the HSPSC-scales, physicians rated psychosocial working conditions and patient safety climate more positively than nurses. With regard to occupational safety, nurses
indicated higher occupational risks than physicians.
Conclusions:
The WorkSafeMed study combined the assessment of the four topics psychosocial working conditions, leadership, patient safety climate, and occupational safety climate in hospitals. Looking at the four topics provides an overview of where improvements in hospitals may be needed for nurses and physicians. Based on these results,
improvements in working conditions, patient safety climate, and occupational safety climate are required for health care professionals in German university hospitals – especially for nurses.
Objective
To revise the German guidelines and recommendations for ensuring Good Epidemiological Practice (GEP) that were developed in 1999 by the German Society for Epidemiology (DGEpi), evaluated and revised in 2004, supplemented in 2008, and updated in 2014.
Methods
The executive board of the DGEpi tasked the third revision of the GEP. The revision was arrived as a result of a consensus-building process by a working group of the DGEpi in collaboration with other working groups of the DGEpi and with the German Association for Medical Informatics, Biometry and Epidemiology, the German Society of Social Medicine and Prevention (DGSMP), the German Region of the International Biometric Society (IBS-DR), the German Technology, Methods and Infrastructure for Networked Medical Research (TMF), and the German Network for Health Services Research (DNVF). The GEP also refers to related German Good Practice documents (e.g. Health Reporting, Cartographical Practice in the Healthcare System, Secondary Data Analysis).
Results
The working group modified the 11 guidelines (after revision: 1 ethics, 2 research question, 3 study protocol and manual of operations, 4 data protection, 5 sample banks, 6 quality assurance, 7 data storage and documentation, 8 analysis of epidemiological data, 9 contractual framework, 10 interpretation and scientific publication, 11 communication and public health) and modified and supplemented the related recommendations. All participating scientific professional associations adopted the revised GEP.
Conclusions
The revised GEP are addressed to everyone involved in the planning, preparation, execution, analysis, and evaluation of epidemiological research, as well as research institutes and funding bodies.
This feasibility study investigates the flexural properties of biocomposites containing woven flax textiles (plain, twill, satin) and woven twill patterned hybrid textiles containing flax-/glass or flax-/carbon mixture for lightweight applications. Synthetic fibers are integrated as weft and flax fibers are integrated as warp yarns using a double-rapier weaving machine with a Jacquard attachment. The corresponding biocomposites are manufactured via vacuum infusion process using a biobased epoxy resin as a matrix. The manufactured biocomposites are analyzed with regard to their density and flexural properties. The results show that the use of hybrid textiles offers a promising solution for the manufacture of biocomposites with a higher biobased content and significantly improved flexural properties. Furthermore, the introduction of high-performance synthetic fibers in textiles enables the manufacture of biocomposites with an isotropic mechanical performance.
Background: Oral cancers (OC) are malignant lesions occurring in the oral cavity that include squamous cell carcinomas (SCC), salivary gland and odontogenic neoplasms. Even though it is the eighth most common malignancy globally but in Pakistan it is the second commonest type of cancer. Lack of awareness about ill-effects of preventable risk factors of oral cancer increases the burden of disease due to the associated high cost of treatment, permanent impairment and high mortality. Hence, awareness can be very helpful in prevention, control and early diagnosis of oral cancer.
Methods: A cross-sectional study was carried out among university students from Karachi, Pakistan during April to May 2018. Three hundred students were approached to participate in the study of which 277 agreed to participate. Pretested questionnaire was distributed and collected data was analysed using IBM SPSS version 23.
Results: There were 125 (45%) males and 152 (55%) females in the study and response rate was 94%. Sixty one percent (154/250) respondents correctly identified smoking, and tobacco chewing as possible causes of oral cancer. Almost one third (74%; 184/250) respondents correctly responded that oral cancer does not spread from person to person through touch or speaking. Sixty six percent (164/250) respondents believed that oral cancer is curable. Mean score of knowledge was higher in females (61%) than males (53%). Significantly higher number of females compared to male participants answered correctly to questions regarding cause of oral cancer, spread of disease and occurrence of oral cancer in AIDS patients.
Conclusions: Participants showed poor knowledge about oral cancer. Female participants showed better knowledge compared to male counterparts. Details about oral cancer should be incorporated in the university curriculum and periodic awareness programs should be organized for students.